Searching across hundreds of databases

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.

PloS one | Aug 17, 2012

The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality is demonstrated by Menkes disease, an X-linked copper deficiency disorder characterized by defects in nervous-, cardiovascular- and skeletal systems, and is caused by mutations in the ATP7A copper transporter. Certain ATP7A mutations also cause X-linked Spinal Muscular Atrophy type 3 (SMAX3), which is characterized by neuromuscular defects absent an underlying systemic copper deficiency. While an understanding of these ATP7A-related disorders would clearly benefit from an animal model that permits tissue-specific deletion of the ATP7A gene, no such model currently exists. In this study, we generated a floxed mouse model allowing the conditional deletion of the Atp7a gene using Cre recombinase. Global deletion of Atp7a resulted in morphological and vascular defects in hemizygous male embryos and death in utero. Heterozygous deletion in females resulted in a 50% reduction in live births and a high postnatal lethality. These studies demonstrate the essential role of the Atp7a gene in mouse embryonic development and establish a powerful model for understanding the tissue-specific roles of ATP7A in copper metabolism and disease.

Pubmed ID: 22900086 RIS Download

Mesh terms: Adenosine Triphosphatases | Animals | Cation Transport Proteins | Disease Models, Animal | Embryo, Mammalian | Embryonic Development | Exons | Female | Fibroblasts | Gene Knockout Techniques | Gene Order | Gene Targeting | Genotype | Male | Menkes Kinky Hair Syndrome | Mice | Mice, Knockout | Phenotype

Research resources used in this publication

None found

Research tools detected in this publication

None found

Data used in this publication

None found

Associated grants

  • Agency: NIDDK NIH HHS, Id: R01 DK093386
  • Agency: NIDDK NIH HHS, Id: DK093386
  • Agency: NIDDK NIH HHS, Id: DK44464
  • Agency: NIDDK NIH HHS, Id: DK59893
  • Agency: NIDDK NIH HHS, Id: R37 DK044464

Mouse Genome Informatics (Data, Gene Annotation)

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.

We have not found any resources mentioned in this publication.